: VEXAS is a prototypic hemato-inflammatory disease combining rheumatologic and hematologic disorders in a molecularly defined nosological entity. In this nationwide study, we aimed at screenshotting the current diagnostic capabilities and clinical-genomic features of VEXAS, and tracked UBA1 longitudinal clonal dynamics upon different therapeutics, including allogeneic hematopoietic cell transplant. We leveraged a collaboration between the Italian Society of Experimental Hematology and of Rheumatology and disseminated a national survey to collect clinical and molecular patient information. Overall, 13/29 centers performed UBA1 genomic testing locally, including Sanger sequencing (46%), next-generation sequencing (23%), droplet digital polym...
Objective Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 e...
Objective: The aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) internat...
Background: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly def...
: VEXAS is a prototypic hemato-inflammatory disease combining rheumatologic and hematologic disorder...
Background: Somatic mutations in the gene encoding the major E1 ubiquitin ligase, UBA1 (X-linked), w...
Background/Objectives: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is ...
This dataset contains the digital slides of the bone marrow aspirate smears of a VEXAS syndrome pati...
VEXAS (acronym for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a fascinating new en...
International audienceBackground: Patients with solid cancers and hematopoietic malignancy can exper...
Background: A novel autoinflammatory syndrome was recently described in male patients who harbored s...
Recently, a novel disorder coined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) s...
Objective Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 e...
Objective: The aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) internat...
Background: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly def...
: VEXAS is a prototypic hemato-inflammatory disease combining rheumatologic and hematologic disorder...
Background: Somatic mutations in the gene encoding the major E1 ubiquitin ligase, UBA1 (X-linked), w...
Background/Objectives: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is ...
This dataset contains the digital slides of the bone marrow aspirate smears of a VEXAS syndrome pati...
VEXAS (acronym for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a fascinating new en...
International audienceBackground: Patients with solid cancers and hematopoietic malignancy can exper...
Background: A novel autoinflammatory syndrome was recently described in male patients who harbored s...
Recently, a novel disorder coined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) s...
Objective Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 e...
Objective: The aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) internat...
Background: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly def...